检索结果 - Kristl G. Claeys
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Phenotype variability and therapeutic response to Patisiran in patients with hereditary transthyretin amyloidosis: a Belgian real-world experience 由 Stéphanie Delstanche, Kristl G. Claeys, Jan De Bleecker, Gauthier Remiche, Pierre Troisfontaines, Vinciane Van Parys, Antoine Bondue
出版 2025Artigo -
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Clinical and biometrical 12-month follow-up in patients after reconstruction of the sural nerve biopsy defect by the collagen-based nerve guide Neuromaix 由 Ahmet Bozkurt, Kristl G. Claeys, Simone Schrading, Jana Vienna Rödler, Haktan Altinova, Jörg B. Schulz, Joachim Weis, Norbert Pallua, Sabien Geraldine Antonia van Neerven
出版 2017Artigo -
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Serum neurofilament heavy chains as early marker of motor neuron degeneration 由 Maxim De Schaepdryver, Janne Goossens, Steffi De Meyer, Andreas Jeromin, Pegah Masrori, Britta Brix, Kristl G. Claeys, Jolien Schaeverbeke, Katarzyna Adamczuk, Rik Vandenberghe, Philip Van Damme, Koen Poesen
出版 2019Artigo -
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Serum neurofilament light chain levels as a marker of upper motor neuron degeneration in patients with Amyotrophic Lateral Sclerosis 由 Benjamin Gille, Maxim De Schaepdryver, Janne Goossens, Lieselot Dedeene, Joke De Vocht, Emanuela Oldoni, An Goris, Ludo Van Den Bosch, Bart Depreitere, Kristl G. Claeys, Jos Tournoy, Philip Van Damme, Koen Poesen
出版 2018Artigo -
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization 由 Jorge A. Bevilacqua, Nicole Monnier, Marc Bitoun, B. Eymard, Ana Ferreiro, Soledad Monges, F. Lubieniecki, Analía Taratuto, A. Laquérrière, Kristl G. Claeys, Isabelle Marty, Michel Fardeau, Pascale Guicheney, Joël Lunardi, Norma B. Romero
出版 2010Artigo -
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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease 由 Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayubá Perna, Alberto Dubrovsky, Marcondes C. França, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
出版 2020Artigo -
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Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG 由 Sarah Dewilde, Glenn Philips, Sandra Paci, Jon Beauchamp, Silvia Chiroli, Casey Quinn, Laura Day, Mark Larkin, Jacqueline Palace, Sonia Berrih‐Aknin, Kristl G. Claeys, Srikanth Muppidi, Renato Mantegazza, Francesco Saccà, Andreas Meisel, Guillaume Bassez, Hiroyuki Murai, M.H.M. Janssen
出版 2023Artigo -
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Switching Enzyme Replacement Therapy for Late‐Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of <scp>PROPEL</scp>... 由 Hani Kushlaf, Jordi Díaz‐Manera, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Paula R. Clemens, Mazen M. Dimachkie, Priya S. Kishnani, Pascal Laforêt, Mark Roberts, Benedikt Schoser, António Toscano, Jeff Castelli, Fred Holdbrook, Sheela Sitaraman Das, Mitchell H. Goldman, Tahseen Mozaffar
出版 2025Artigo -
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Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy 由 Marie‐Therese Holzer, Akinori Uruha, Andreas Roos, Andreas Hentschel, Anne Schänzer, Joachim Weis, Kristl G. Claeys, Benedikt Schoser, Federica Montagnese, Hans-Hilmar Goebel, Melanie Huber, Sarah Léonard-Louis, Ina Kötter, Nathalie Streichenberger, Laure Gallay, Olivier Benvéniste, Udo Schneider, Corinna Preuße, Martin Krusche, Werner Stenzel
出版 2024Artigo -
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Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients 由 Arvid Suls, Kristl G. Claeys, D. Goossens, B Harding, Rob van Luijk, Stefaan Scheers, Liesbet Deprez, Dominique Audenaert, Tine Van Dyck, Sabine Beeckmans, Iris Smouts, Berten Ceulemans, Lieven Lagae, Gunnar Buyse, Nina Barišić, Jean‐Paul Misson, J. Wauters, Jurgen Del‐Favero, Peter De Jonghe, Lieve Claes
出版 2006Artigo -
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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy 由 Kristl G. Claeys, Stephan Züchner, Marina Kennerson, José Berciano, Abel Garcı́a Garcı́a, K. Verhoeven, Elsdon Storey, John Merory, H.M.E. Bienfait, Martin Lammens, Eva Nelis, Jonathan Baets, Els De Vriendt, Zwi Berneman, Ilse De Veuster, Jeffery M. Vance, Garth A. Nicholson, Vincent Timmerman, Peter De Jonghe
出版 2009Artigo
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